Canonical Allele Identifier: CA397723869
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1447499516
gnomAD v2: 17-7125618-C-T
gnomAD v4: 17-7222299-C-T
MyVariant Identifiers: chr17:g.7125618C>T (hg19) chr17:g.7222299C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222299C>T , CM000679.2:g.7222299C>T GRCh38
NC_000017.10:g.7125618C>T , CM000679.1:g.7125618C>T GRCh37
NC_000017.9:g.7066342C>T NCBI36
NG_007975.1:g.7466C>T
NG_008391.2:g.2752G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.875C>T MANE Select ENSP00000349297.5:p.Thr292Ile
ENST00000322910.9:c.*830C>T ENSP00000325395.5:n.*830C>T
ENST00000350303.9:c.809C>T ENSP00000344152.5:p.Thr270Ile
ENST00000356839.9:c.875C>T ENSP00000349297.5:p.Thr292Ile
ENST00000543245.6:c.944C>T ENSP00000438689.2:p.Thr315Ile
ENST00000577191.5:n.1047C>T
ENST00000581378.5:c.593C>T
ENST00000582379.1:n.259C>T
NM_000018.3:c.875C>T NP_000009.1:p.Thr292Ile
NM_001033859.2:c.809C>T NP_001029031.1:p.Thr270Ile
NM_001270447.1:c.944C>T NP_001257376.1:p.Thr315Ile
NM_001270448.1:c.647C>T NP_001257377.1:p.Thr216Ile
XM_006721516.2:c.875C>T XP_006721579.2:p.Thr292Ile
XM_011523829.1:c.875C>T XP_011522131.1:p.Thr292Ile
XM_011523830.1:c.875C>T XP_011522132.1:p.Thr292Ile
XR_934021.1:n.982C>T
XR_934022.1:n.982C>T
XR_934023.1:n.982C>T
XM_006721516.3:c.875C>T XP_006721579.2:p.Thr292Ile
XM_011523829.2:c.875C>T XP_011522131.1:p.Thr292Ile
XM_011523830.2:c.875C>T XP_011522132.1:p.Thr292Ile
XM_024450741.1:c.875C>T XP_024306509.1:p.Thr292Ile
XR_934021.2:n.934C>T
XR_934022.2:n.934C>T
XR_934023.2:n.934C>T
NM_000018.4:c.875C>T MANE Select NP_000009.1:p.Thr292Ile
NM_001033859.3:c.809C>T NP_001029031.1:p.Thr270Ile
NM_001270447.2:c.944C>T NP_001257376.1:p.Thr315Ile
NM_001270448.2:c.647C>T NP_001257377.1:p.Thr216Ile
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